Hereditary spherocytosis medical therapy: Difference between revisions
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==Overview== | ==Overview== | ||
There is no specific medical [[therapy]] for the [[hereditary spherocytosis]], as the [[diagnosis]] is made, surveillance is needed to help detect and manage any [[Complication (medicine)|complications]]. A routine annual review is usually sufficient to detect any [[Complication (medicine)|complications]]. [[Folic Acid|Folic acid]] supplementation is not always required, but is used as a routine for [[Child|children]] with severe [[hemolysis]] and in [[pregnancy]] regardless of severity of [[disease]]. [[Blood transfusion]] may also be required in severely affected [[Infant|infants]] and may be needed during [[aplastic crisis]] or [[pregnancy]]. However, [[Erythropoietin|erythropoietin (EPO)]] may be helpful in reducing the need for [[Blood transfusion|transfusion]] in some [[Infant|infants]]. | |||
==Medical Therapy== | ==Medical Therapy== | ||
As | * There is no specific medical [[therapy]] for [[hereditary spherocytosis]]. As the [[diagnosis]] of [[hereditary spherocytosis]] is made, surveillance is needed to help detect and manage any [[Complication (medicine)|complications]].<ref name="Bolton-MaggsStevens2004">{{cite journal|last1=Bolton-Maggs|first1=P. H. B.|last2=Stevens|first2=R. F.|last3=Dodd|first3=N. J.|last4=Lamont|first4=G.|last5=Tittensor|first5=P.|last6=King|first6=M.-J.|title=Guidelines for the diagnosis and management of hereditary spherocytosis|journal=British Journal of Haematology|volume=126|issue=4|year=2004|pages=455–474|issn=0007-1048|doi=10.1111/j.1365-2141.2004.05052.x}}</ref> | ||
* A routine annual review is usually sufficient to detect any [[Complication (medicine)|complications]] such as [[Parvovirus|parvovirus infection]] or [[abdominal pain]] which may necessitate the investigation for [[Gallstone disease|gallstones]]. | |||
* '''Folic acid''' | |||
** [[Folic Acid|Folate]] supplementation is not always required, but is used as a routine for [[Child|children]] with severe [[hemolysis]] and in [[pregnancy]], regardless of severity of [[hereditary spherocytosis]].<ref>{{Cite journal | |||
| author = [[P. H. B. Bolton-Maggs]] | |||
| title = Hereditary spherocytosis; new guidelines | |||
| journal = [[Archives of disease in childhood]] | |||
| volume = 89 | |||
| issue = 9 | |||
| pages = 809–812 | |||
| year = 2004 | |||
| month = September | |||
| doi = 10.1136/adc.2003.034587 | |||
| pmid = 15321852 | |||
}}</ref> | |||
** [[Folic Acid|Folic acid]] supplementation is appropriate for those with moderate to severe [[hemolysis]] and/or during [[pregnancy]]. | |||
** This is based on an increased requirement for [[Folic Acid|folate]] in [[Red blood cell|RBC]] production; there are no [[Clinical trial|clinical trials]] investigating the role of [[Folic Acid|folic acid]] treatment, and [[Observational study|observational studies]] that documented [[megaloblastic anemia]] in a small number of [[Patient|patients]] with [[hereditary spherocytosis]] were performed before the institution of routine [[Folic Acid|folic acid]] supplementation of [[Grain|grains]] and [[cereals]].<ref name="pmid15287938">{{cite journal| author=Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ et al.| title=Guidelines for the diagnosis and management of hereditary spherocytosis. | journal=Br J Haematol | year= 2004 | volume= 126 | issue= 4 | pages= 455-74 | pmid=15287938 | doi=10.1111/j.1365-2141.2004.05052.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15287938 }}</ref> | |||
** The typical [[dose]] for those with moderate to severe [[hemolysis]] is 1 to 2 mg/day, while those who have [[hereditary spherocytosis]] of any severity and are [[Pregnancy|pregnant]] should receive [[Dose|doses]] as high as 4 to 5 mg/day, as discussed separately. | |||
** For individuals with mild [[hemolysis]] who have normal intake of fresh [[Fruit|fruits]] and [[Vegetable|vegetables]] (or [[Folic acid|folic-acid]]-supplemented [[Grain|grains]]), daily [[Folic Acid|folic acid]] is not required, but for those who place a high value on avoiding [[folate deficiency]], which could cause worsening [[anemia]], taking daily [[Folic Acid|folic acid]] (typical [[dose]], 1 to 2 mg daily) is safe and inexpensive, and there are essentially no [[Adverse effect (medicine)|side effects]] or [[Contraindication|contraindications]]. | |||
* '''Transfusions''' | |||
** [[Blood transfusion]] is often required in severely affected [[Infant|infants]] and may be needed during certain times in other settings (eg, [[aplastic crisis]], [[pregnancy]]).However, [[Blood transfusion|transfusions]] usually are not required on a [[Chronic (medical)|chronic]] basis or for a long enough time to cause [[iron overload]]. | |||
** Typical [[hemoglobin]] thresholds for [[Blood transfusion|transfusion]] depend on the [[Ageing|age]] of the [[patient]], [[Symptom|symptoms]], and [[Comorbidity|comorbidities]]. | |||
**Some [[Infant|infants]] may require [[Blood transfusion|transfusions]] for [[anemia]] and/or [[hyperbilirubinemia]]. Older [[Child|children]] may be able to tolerate a [[hemoglobin]] level of 5 to 6 g/dL without [[Blood transfusion|transfusions]]. | |||
** [[Adult|Adults]] may require [[Blood transfusion|transfusions]] for [[anemia]], with thresholds determined by their clinical status, | |||
** Individuals with an [[aplastic crisis]] due to [[Parvovirus|parvovirus infection]] or other [[bone marrow]] insult may require [[Blood transfusion|transfusions]] if they have a decreasing [[hemoglobin]] level without a robust [[Reticulocyte|reticulocytosis]]. | |||
** The usual course of [[parvovirus]] associated [[anemia]] is spontaneous [[resolution]] within a few days or weeks. [[Infected]] individuals are monitored with twice-weekly [[Complete blood count|complete blood counts (CBCs)]] and [[Reticulocyte count|reticulocyte counts]] to determine the expected [[hemoglobin]] nadir and the need for [[Blood transfusion|transfusion]]. | |||
** Consideration of [[Transfusion hemosiderosis|transfusional iron overload]] typically occurs after [[Blood transfusion|transfusion]] of more than 15 to 20 units of [[Red blood cell|RBCs]] (more than 10 units in smaller [[Child|children]]). | |||
** [[Adult|Adults]] with mild [[hemolysis]] may have a slight increase in [[iron]] [[absorption]], and if this occurs in the setting of [[Hemochromatosis|hereditary hemochromatosis]], which is common, [[iron overload]] may occur. | |||
* '''Erythropoietin''' | |||
** [[Erythropoietin|Erythropoietin (EPO)]] may be helpful in reducing the need for [[Blood transfusion|transfusion]] in some [[Infant|infants]].<ref name="pmid22055020">{{cite journal| author=Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology| title=Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. | journal=Br J Haematol | year= 2012 | volume= 156 | issue= 1 | pages= 37-49 | pmid=22055020 | doi=10.1111/j.1365-2141.2011.08921.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22055020 }}</ref> | |||
** Typically, this can be discontinued around the [[Ageing|age]] of nine months. In one study, the use of [[recombinant]] [[human]] [[erythropoietin]] (1000 international units/kg per week) with [[iron]] supplementation obviated the need for [[Blood transfusion|transfusion]] in 13 of 16 [[Infant|infants]] with severe [[hereditary spherocytosis]].<ref name="pmid11920183">{{cite journal| author=Tchernia G, Delhommeau F, Perrotta S, Cynober T, Bader-Meunier B, Nobili B et al.| title=Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. | journal=Hematol J | year= 2000 | volume= 1 | issue= 3 | pages= 146-52 | pmid=11920183 | doi=10.1038/sj/thj/6200022 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11920183 }}</ref> | |||
** As the [[Infant|infants]] grew and began to mount an adequate [[Erythropoiesis|erythropoietic response]], the [[erythropoietin]] [[dose]] could be tapered and discontinued before the [[Ageing|age]] of nine months. | |||
* '''Other therapies''' | |||
** [[Hematopoietic stem cell transplantation|Allogeneic hematopoietic cell transplantation (HCT)]] is not used in [[hereditary spherocytosis]] due to an unfavorable risk-benefit ratio, but a case was reported in which an individual with both [[hereditary spherocytosis]] and [[Chronic myelogenous leukemia|chronic myelogenous leukemia (CML)]] underwent [[Hematopoietic stem cell transplantation|allogeneic hematopoietic stem cell transplantation]], which [[Cure|cured]] both [[Disorder (medicine)|disorders]].<ref name="pmid22490603">{{cite journal| author=Zhang XH, Fu HX, Xu LP, Liu DH, Chen H, Han W et al.| title=Allo-hematopoietic stem cell transplantation is a potential treatment for a patient with a combined disorder of hereditary spherocytosis. | journal=Chin Med J (Engl) | year= 2012 | volume= 125 | issue= 5 | pages= 947-50 | pmid=22490603 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22490603 }}</ref> | |||
* There are no special restrictions (eg, no activity limitations) on [[Child|children]] with [[splenomegaly]] due to [[hereditary spherocytosis]].<ref name="pmid119201832">{{cite journal| author=Tchernia G, Delhommeau F, Perrotta S, Cynober T, Bader-Meunier B, Nobili B et al.| title=Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. | journal=Hematol J | year= 2000 | volume= 1 | issue= 3 | pages= 146-52 | pmid=11920183 | doi=10.1038/sj/thj/6200022 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11920183 }}</ref> | |||
==References== | ==References== | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
Latest revision as of 18:41, 8 December 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
There is no specific medical therapy for the hereditary spherocytosis, as the diagnosis is made, surveillance is needed to help detect and manage any complications. A routine annual review is usually sufficient to detect any complications. Folic acid supplementation is not always required, but is used as a routine for children with severe hemolysis and in pregnancy regardless of severity of disease. Blood transfusion may also be required in severely affected infants and may be needed during aplastic crisis or pregnancy. However, erythropoietin (EPO) may be helpful in reducing the need for transfusion in some infants.
Medical Therapy
- There is no specific medical therapy for hereditary spherocytosis. As the diagnosis of hereditary spherocytosis is made, surveillance is needed to help detect and manage any complications.[1]
- A routine annual review is usually sufficient to detect any complications such as parvovirus infection or abdominal pain which may necessitate the investigation for gallstones.
- Folic acid
- Folate supplementation is not always required, but is used as a routine for children with severe hemolysis and in pregnancy, regardless of severity of hereditary spherocytosis.[2]
- Folic acid supplementation is appropriate for those with moderate to severe hemolysis and/or during pregnancy.
- This is based on an increased requirement for folate in RBC production; there are no clinical trials investigating the role of folic acid treatment, and observational studies that documented megaloblastic anemia in a small number of patients with hereditary spherocytosis were performed before the institution of routine folic acid supplementation of grains and cereals.[3]
- The typical dose for those with moderate to severe hemolysis is 1 to 2 mg/day, while those who have hereditary spherocytosis of any severity and are pregnant should receive doses as high as 4 to 5 mg/day, as discussed separately.
- For individuals with mild hemolysis who have normal intake of fresh fruits and vegetables (or folic-acid-supplemented grains), daily folic acid is not required, but for those who place a high value on avoiding folate deficiency, which could cause worsening anemia, taking daily folic acid (typical dose, 1 to 2 mg daily) is safe and inexpensive, and there are essentially no side effects or contraindications.
- Transfusions
- Blood transfusion is often required in severely affected infants and may be needed during certain times in other settings (eg, aplastic crisis, pregnancy).However, transfusions usually are not required on a chronic basis or for a long enough time to cause iron overload.
- Typical hemoglobin thresholds for transfusion depend on the age of the patient, symptoms, and comorbidities.
- Some infants may require transfusions for anemia and/or hyperbilirubinemia. Older children may be able to tolerate a hemoglobin level of 5 to 6 g/dL without transfusions.
- Adults may require transfusions for anemia, with thresholds determined by their clinical status,
- Individuals with an aplastic crisis due to parvovirus infection or other bone marrow insult may require transfusions if they have a decreasing hemoglobin level without a robust reticulocytosis.
- The usual course of parvovirus associated anemia is spontaneous resolution within a few days or weeks. Infected individuals are monitored with twice-weekly complete blood counts (CBCs) and reticulocyte counts to determine the expected hemoglobin nadir and the need for transfusion.
- Consideration of transfusional iron overload typically occurs after transfusion of more than 15 to 20 units of RBCs (more than 10 units in smaller children).
- Adults with mild hemolysis may have a slight increase in iron absorption, and if this occurs in the setting of hereditary hemochromatosis, which is common, iron overload may occur.
- Erythropoietin
- Erythropoietin (EPO) may be helpful in reducing the need for transfusion in some infants.[4]
- Typically, this can be discontinued around the age of nine months. In one study, the use of recombinant human erythropoietin (1000 international units/kg per week) with iron supplementation obviated the need for transfusion in 13 of 16 infants with severe hereditary spherocytosis.[5]
- As the infants grew and began to mount an adequate erythropoietic response, the erythropoietin dose could be tapered and discontinued before the age of nine months.
- Other therapies
- Allogeneic hematopoietic cell transplantation (HCT) is not used in hereditary spherocytosis due to an unfavorable risk-benefit ratio, but a case was reported in which an individual with both hereditary spherocytosis and chronic myelogenous leukemia (CML) underwent allogeneic hematopoietic stem cell transplantation, which cured both disorders.[6]
- There are no special restrictions (eg, no activity limitations) on children with splenomegaly due to hereditary spherocytosis.[7]
References
- ↑ Bolton-Maggs, P. H. B.; Stevens, R. F.; Dodd, N. J.; Lamont, G.; Tittensor, P.; King, M.-J. (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". British Journal of Haematology. 126 (4): 455–474. doi:10.1111/j.1365-2141.2004.05052.x. ISSN 0007-1048.
- ↑ P. H. B. Bolton-Maggs (2004). "Hereditary spherocytosis; new guidelines". Archives of disease in childhood. 89 (9): 809–812. doi:10.1136/adc.2003.034587. PMID 15321852. Unknown parameter
|month=ignored (help) - ↑ Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ; et al. (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". Br J Haematol. 126 (4): 455–74. doi:10.1111/j.1365-2141.2004.05052.x. PMID 15287938.
- ↑ Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology (2012). "Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update". Br J Haematol. 156 (1): 37–49. doi:10.1111/j.1365-2141.2011.08921.x. PMID 22055020.
- ↑ Tchernia G, Delhommeau F, Perrotta S, Cynober T, Bader-Meunier B, Nobili B; et al. (2000). "Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis". Hematol J. 1 (3): 146–52. doi:10.1038/sj/thj/6200022. PMID 11920183.
- ↑ Zhang XH, Fu HX, Xu LP, Liu DH, Chen H, Han W; et al. (2012). "Allo-hematopoietic stem cell transplantation is a potential treatment for a patient with a combined disorder of hereditary spherocytosis". Chin Med J (Engl). 125 (5): 947–50. PMID 22490603.
- ↑ Tchernia G, Delhommeau F, Perrotta S, Cynober T, Bader-Meunier B, Nobili B; et al. (2000). "Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis". Hematol J. 1 (3): 146–52. doi:10.1038/sj/thj/6200022. PMID 11920183.